Frontotemporal dementia (FTD): Understandings and experiences

Some families affected by MND also have a family history of frontotemporal dementia (FTD). This is because there are genetic variants which can cause both conditions, as well as other neurological symptoms. People who have inherited these genetic variants may develop either MND or FTD, but some people develop both problems at the same time. A repeat expansion of the C9orf72 gene (see glossary for explanation) is the most common genetic cause of MND and FTD in people from a white European background but is much rarer in Asian populations where other genes may be associated with an increased risk of MND and FTD instead.

This section covers:

  • Understanding the genetic link between MND and FTD
  • Experiences of relatives with FTD
  • Feelings around FTD: Imagining the future

Understanding the genetic link between MND and FTD

Some people we interviewed had relatives who had been affected by MND and FTD, though not everyone knew there was a genetic link between these diseases at first. Having relatives affected by both MND and FTD meant that it sometimes took a long time to realise that there was a genetic condition in the family.

Lillian lost her father, aunts and cousin to MND and frontotemporal dementia (FTD). She thought “there’s something going on here”, but only understood the link when she found out about the C9orf72 genetic variant.

The first I knew of MND was when my dad’s youngest sister started with motor neurone disease, bulbar motor neurone disease.

We didn’t think anything at that stage about it being in the family, it was just somebody in the family had been affected by motor neurone disease.

She died about two years later, and you just carry-on thinking, “That was really sad, that was quite horrible, quite disturbing to see how quickly the onset was and how quickly she moved, to dying.”

The next thing that happened that we didn’t link to my dad’s youngest sister’s illness at all was my dad’s oldest sister was affected by dementia. We didn’t pay any attention to when the onset was because we didn’t see any link, but she died with dementia. And again, we still didn’t think there was any family connection, we didn’t connect motor neurone disease with dementia, we just thought they were two isolated incidences.

Life ticked along, as it does, and my dad had a fall and again, we thought nothing of it, he was in his 70s, people in their 70s fall. But following on from the fall he started with weakness in his legs and his arms, and it became apparent over testing that he again had got motor neurone disease. So, he was diagnosed with motor neurone disease and his was initially through his arms and his legs, but eventually did get to his speech and swallowing, and my dad died.

At that stage, sort of the cogs start turning and you’re starting thinking, “Well that’s, you know two in the same generation with the same illness, there must be a family connection.” So, I went to my doctor’s and just asked, “Is there a family connection, am I likely to get this? Are any of my relatives likely to get this, my brother, his children?” And at that stage, I think there hadn’t been anything familial specifically identified. All that was known is that there was a family connection and none of, no genetic link or how likely it was. So, I went away with a slight worry in my mind that there was something in the family but there was nothing concrete to tie it to, there’d been no genes identified.

The next thing that happened was my dad’s oldest sister’s daughter was diagnosed with motor neurone disease, and we just thought, “This is odd, she’s the daughter of the sibling who had dementia, how come this is motor neurone disease?” And again, I thought, “There’s something going on here”, and it took a little while to get to the point where her husband got in contact with me and said, “There’s a gene, and it’s C9orf72”, and he explained the 50/50 chance of it being inherited from a parent.

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Other people also realised that the genetic variant was more widespread in their family than they had previously thought. David and Lizbeth have both wondered if family members in previous generations could have had FTD; at the time, they were described as having gone “crackers” or “lost their marbles”. After Kelly and Jade’s aunt was diagnosed with C9orf72-related MND, their grandmother was diagnosed with FTD, having previously been diagnosed and treated for a different condition.

People were told about the genetic link between MND and FTD by a consultant or genetic counsellor, and others found out by seeing it written on a genetic test results letter, hearing from a family member, or reading online. In some cases, people didn’t find out until symptoms appeared (for one family this may have been because the C9orf72 gene variant had only recently been discovered). Finding this out could be a shock. It could be upsetting and distressing, to know that they or other relatives could be affected by either or both diseases, and hard to take in.

When she was diagnosed with MND, Alison was told that she could also get frontotemporal dementia, from which her mum had died. The way she was told made a difficult diagnosis “a lot harder to take”.

When did that kind of realisation come that maybe this was something that was not just sporadic?

Well, I think with my MND consultant’s assertion that she thought when we were going through family history and I was telling her about mum’s dementia, and she was on to that straightaway. And I suppose I went home and thought about it a bit and thought, you know, what about my great uncle? Do you know, I can remember, because his decline was so rapid and he worked for what was then British Railways, as my grandfather did, and the quick-fix solution to an accessible property in those days was an old railway carriage. You know, like a little bungalow, really, you know, all converted and what-not. That was the quick-fix solution to his mobility problems.

I had no inkling about the link of frontotemporal dementia with MND, I just hadn’t thought about it. But when my consultant mentioned it as a link, cogs started to click around.

She’s delivering a diagnosis of MND, and then effectively she’s saying to me, “Oh, yes, and you might have frontotemporal dementia like your mum as well, you could get, you know, both,” you know [laughs]? And I’m thinking, “Oh, god, great.” You know? It was as if she had blinkers on and it was the pure science of the situation was all she could see, she couldn’t see any further than that. It makes a very difficult diagnosis a lot, lot harder to take.

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Unlike most of the people we spoke to whose family had been affected by MND and FTD, Alison did not carry the C9orf72 genetic variant. At the time, she was not offered further genetic testing but feels this should have been suggested as it could have provided useful information for her family (it is now common for people with MND to be tested for panels of gene variants).

Finding out about the genetic link between MND and FTD could be confusing. Some people didn’t know much about FTD and had to look it up on the internet. It was hard to understand how one gene could cause such a range of symptoms, and not everyone was aware of how they or other family members could be affected. Whilst some of the individuals we spoke to were interested to know more information on things like the likelihood of developing either MND or FTD, others didn’t want to know too much.

Experiences of relatives with FTD

Even where people knew FTD was a possibility in their family, the diagnosis of a relative could still come as a shock. Some people described very marked changes in their relatives, yet for others it took some time to realise something was wrong, as their behaviour was “an exaggeration” of how they already were. Louisa questioned whether her mum could have been affected for longer than they had thought.

There are different types of FTD and people can be affected in various ways. People we interviewed described a variety of symptoms in family members, including changes in behaviour and personality, memory problems and forgetfulness, confusion and lack of awareness, difficulty in communication, and visions. Where a family member had been diagnosed with MND-FTD, they also had physical symptoms. John and Maggie’s brother had been diagnosed with FTD, but there was a question mark over whether he had MND too.

Seeing relatives with FTD could be very difficult to deal with for family members, especially where they felt that they were losing the person they knew. JW highlights that Jean’s loss of speech, which first alerted them to the fact that something was wrong, made it even more challenging to deal with the FTD symptoms that came later.

JW’s wife, Jean, was diagnosed with MND-FTD, caused by the C9orf72 gene variant. Seeing her health decline was “horrible”.

It was just getting worse and worse. The PEG feed, the wheelchair, the visions… Because I should have said, perhaps… it wasn’t just seeing her dad [having visions] and things; my wife’s character completely changed. She wasn’t at all like she’d been, even in the spring of that year, she got very inside herself, she was even more difficult, increasingly difficult to communicate with. You know, got emotionally upset in ways that she’d never been before, we’d been married a long time. It was horrible. Then the paramedics having to come, and then the people with the bloody hoist, it was rubbish.

So to be honest, at that time, you were living day to day, watching a gradual decline get increasingly declined, to someone that you’d known and loved for so long. Almost literally, she was disappearing before our eyes. 

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One situation people found upsetting was when a family member with FTD forgot their name. This bothered Louisa a bit, but “I don’t take it personally… it’s not her fault”. Where people hadn’t been told about the diagnosis of FTD, seeing these symptoms could be confusing.

Calum wasn’t told the reason for his father’s memory problems until after he died. He was relieved to have an explanation but felt “blown away” that the C9orf72 gene variant could cause FTD.

So initially he had these different symptoms like, and the dementia side of it, had you not realised it was related?
 
No, not at all, I had no idea. I didn’t even know what it was. Like the example I gave where he forgot who I was, my sister had come over from Australia with her boyfriend and we had met up prior just because we had some concerns about my father’s care, and we decided to go and see him without the boyfriend, and he was going to join us a little bit later.
 
I walked into the room with my sister and we were stood by this huge window in [city], late evening in winter, and he didn’t recognise me, he was like, “Oh, is this your-”, is this my sister’s boyfriend, and I just looked at my sister like, “What?” and then like my dad’s partner had played up that it was the light behind me and then we were like, “No, it’s Calum, it’s me, it’s your son”…
 
They were like, “Oh, it’s just the light behind you”, they just brushed it off. I think he had been suffering a lot worse prior to that point, but because he was able to converse a little bit more normally, it hadn’t really played into my mind that C9orf had a dementia element, and it didn’t hit me until the day, the Monday after my father died, he died on a Friday, when I went… A load of things had happened prior to that point, like my dad had called my sister ‘Nan’ on the phone and things like this. Because I was only seeing him for short amounts of time you didn’t see it, and then I went and rang the GP, the day my father died, just to have, I said I had concerns about his capacity and he had told me he couldn’t talk about my father’s medical situation properly because I hadn’t been given authority, but basically my father’s GP said, “We’re looking into, don’t worry”.
 
Anyway, when the Monday came round, by that point my father, I’d found out my father had died, I went and saw the GP and I said, “Thank you for speaking to me. You said you had these concerns, can you tell me what they were?” and he said, “Well here’s the diagnosis letter”, he gave me a copy of the letter and he said, “Read what it says, it says motor neurone disease, C9orf inherited thing with frontotemporal dementia”. My father – and that’s the same letter that said, “You need to speak to your kids about this”. And I was just blown away to think that there was a dementia element to it that I had no idea of.
 
It was a relief to know that was what was causing it, but yeah, anyone that knows what dementia’s like, sometimes if you don’t know what it’s like you have no idea what it’s doing, you have no idea if the person you’re speaking to has the original memory, and it’s weird, it’s really, really weird. So yeah, I didn’t know there was an element to it, I found out after he died and it was a shock.
 

 

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FTD symptoms could also be challenging from a caregiving perspective.

Georgia Z found it challenging to adapt to her mum’s changing symptoms, as sometimes she was very aware and other times “it was like we’d lost her”.

That was probably where I felt like I had my own child with my mum, because some days she seemed really with us and understanding, and then other times it was like we’d lost her. I think we realised when I mentioned that she kept not understanding. It was quite obvious that there was not a communication, like a strong communication when I’d say, “Mum, you can’t, it’s dangerous for you to swallow food”, and she just wasn’t registering it. And sometimes I would – and I regret it now that I know, I’d give her nothing but love after – but I would scream and say, “Please mum, it’s so dangerous, why are you doing this? Put the yoghurt down”, and kind of looking at her like, “Why aren’t you listening?”
 
But actually when I started speaking to my mum’s friend, the consultants, they kind of explained, “Well that’s probably the frontal lobe side of things”. Because sometimes I would explain it and she’d really get it and I’d say, “You know, it’s dangerous”, and she’d nod, and then other times she’d look at me and be like, “What are you talking about?”
 
I think trying to learn that it is an up and down journey, yeah, I think that was probably the most draining bit, trying to get – and you don’t get any sleep – trying to explain things. You know, you’ve kind of lost them a bit, because with the MND for my aunt, I realised she was very much with it, just apart from her body, but you could tell that she really understood what was going on, whereas my mum, again, like we were just in and out of life, I think, yeah.
 
Just in a bit of a bubble. Sometimes it felt like she literally had this bubble around her head and didn’t really know what was going on.

 

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Louisa’s mum has been diagnosed with FTD and has “transient capacity”. Because of this, the family have struggled to put in place Power of Attorney.

We’ve sort of struggled off and on with trying to get power of attorney and things, but there was a bit of a faux pas with the paperwork, so it never went through, and then by the time… We probably, mum’s got a transient capacity, so it’s getting her at the right time with the right people, that makes that process quite difficult because it’s all got to be done in order, you know, so you can’t sign before I sign and blah, blah, blah.

But in the end, we’ve decided that we don’t really need the health power of attorney, like there’s no real, I don’t think there’s, all the decisions that are getting made medically are in her best interests at heart, the doctors and the nurses and by us, we’re all just acting in her best interests, so. And we’re not going to ever go outside the norm to the point where we need to say like, “No, this is what has to happen”.

The financial power of attorney was the one which would make things easier. Pensions, bank accounts, etc. are all impossible to manage without that.

 

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Although they have faced some challenges with care, Louisa described how her mum has been able to continue with her life as she had before.

Although her FTD means they can’t have the conversations they otherwise might have, Louisa sees it as a “blessing” that her mum is able to continue enjoying life.

I’m more worried about – no, not more – I’m as worried about the frontal lobe dementia as I am about the motor neurone disease, because you know, people with motor neurone disease without dementia, I know that there’s the physical disability and inability to speak and stuff, I don’t know. Like is it better that you understand and hopefully by some method of communication can get your thoughts and feeling across?

I think it’s a blessing for my mum, you know, I think – I totally like contradict what I say there, don’t I – but for my mum, I think, awesome. She doesn’t think she’s got it until recently and she’s plodding on with her life as normal. The only, but the problems are for us because she poses a little bit of a risk to herself when she picks up knives and well, she’s fallen over now and broken her wrist so that’s something that my dad’s having to cope with and, well we’re having to cope with.

But I think at least she’s happy just getting on like she would normally, and it’s probably a bit selfish that I want her to be able to not have that so we can like sit and chat about just stuff, you know, like life, love, that sort of thing, by whatever means would assist her to communicate.

But for myself I’m as worried. Wouldn’t it be nice like not to actually know anything about it – or not not know anything about it, but like not be quite so tuned in? But that’s not, I don’t feel like that because I don’t want that to, I don’t want to have any burden on my family.

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Like Louisa, other people we spoke to also talked about how seeing relatives with FTD fed into their concerns for the future.

Feelings around FTD: Imagining the future

Living with an increased genetic risk of developing MND had an emotional and psychological impact for many of the people we spoke to and knowing that they could also develop FTD was an additional cause of anxiety. As Calum said, it’s a “double whammy”. Some people felt more worried about one condition than the other.

In Adam’s experience, FTD seems more “overtly scary” than MND. He finds it “overwhelming” to think that they can develop at the same time.

So I think whilst observing MND and its form is incredibly tragic and it’s incredibly sad to sometimes have to observe and obviously have to cope with knowing that a loved one is having to endure that, FTD seems to take on its own kind of life. I do feel like it’s a bit more overtly scary, but that’s just in my case, you know? The way that my auntie presented was quite odd, and you don’t know what’s going on, you don’t know what they’re thinking, you don’t really know how they’re processing what you’re saying, you don’t know if you can communicate basic things to them. Whereas MND, you do feel like you’re resonating or certainly your words are being received okay, even if they can’t respond or they’re, you know, they’re losing track of thoughts because they’re focussing on their symptoms physically.

So, I think there’s those kinds of differences, but obviously, you know, they can both happen at the same time or concurrently. So, thinking about that, although I haven’t known a relative [knocks on the table] who’s had that, thinking about possibly developing FTD and MND combined is obviously, given the aforementioned, quite intimidating and again, very overwhelming to think that that could possibly happen comorbidly.

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Jade isn’t as worried about the possibility of developing FTD as she is about MND because she doesn’t feel she would be as aware of what was happening.

Dementia doesn’t bother me so much because you don’t suffer so much physically in the way of your body shutting down and your swallowing and things. You just go a bit nuts. I kind of figure that if that happens, I will be in cuckoo land and it won’t matter so much. I said to my husband, “Just stick me in a nice little home and only visit me if I’m pleased to see you.” [laughs] “If I’m horrible, then don’t even bother because I won’t know anything about it. Don’t put the kids through it.” I mean, having watched my father die, I would never want my children to see anything happen to me, especially like how my father died. So, it’s made me think, you know, if something happens, just shove me away in a corner and let me die quietly, but if it doesn’t, then great. What will be will be. And I’d rather have the FTD than the MND, [laughs] if I get a choice.

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Other people had less experience of seeing relatives with FTD, which affected how they felt about it. Lillian hadn’t seen the first-hand effects of FTD, so “it doesn’t quite hold the horrors that motor neurone disease held for me”. Lizbeth and Sam did not really think about the possibility of developing FTD, because they hadn’t seen relatives with this disease. Lizbeth said, “I don’t think I could choose which one I’d want; I’d rather not have either”.

Age also impacted some people’s worries for the future. Maggie did not worry about FTD because she had been told that it usually develops earlier than MND, though this is not always the case. She said, “I’m taking the route that I’m too old”.

Finding out that the C9orf72 gene variant could cause FTD was hard to cope with. Kirsty felt more frightened of getting FTD, but was concerned about her mum, Maggie, developing MND.

It just sort of, it was just this added extra. It seemed like we already had the possibility of MND and now there’s also this FTD and then there’s the possibility that they can both exist at the same time, and you just think, “Oh my god”. Like how are you supposed to cope with that kind of prospect?
 
I think maybe because with my uncle who has FTD, he is younger than my mum and I don’t know whether I thought, “Well if it was going to have happened, maybe it would have happened already.” These are all just, you know, I guess it’s just your brain trying to find reason or logic in things but none of it’s actually backed up by any scientific knowledge or information. But I suppose there’s only a certain amount of potential threats that your brain can actually handle at any one point, it’s hard to… so I don’t know whether you almost pick and choose the thing that you’re going to be, or you naturally focus your worry on one thing than on another.
 
So I don’t know why really, but if I think about it, I think for my mum it was more of a worry about MND because for some reason I had just thought that that’s what it will be for her, and I have no idea why that is the case.
 
Yeah, but I think for myself I was far more frightened about FTD, and maybe it’s just because I read this statistic that it can happen much earlier that I just – and MND seems to set in much later – that it was just a sort of prioritising in a way the order of which things to worry and in what order to worry about them in.

 

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Some people we spoke to were taking part in research around FTD and hoped this would contribute to improved understandings of the disease and new treatments.

Further information and support around FTD can be found on the websites FTD Talk and Rare Dementia Support.

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